瞳孔异位和类脂蛋白沉积症。

Corectopia and lipoid proteinosis.

作者信息

Johnson L N, Hepler R S

机构信息

Neuro-Ophthalmology Unit, Milton S Hershey Medical Center, Pennsylvania State University, Hershey 17033.

出版信息

Br J Ophthalmol. 1989 May;73(5):394-6. doi: 10.1136/bjo.73.5.394.

DOI:10.1136/bjo.73.5.394

PMID:2730865

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1041750/

Abstract

Lipoid proteinosis (Urbach-Wiethe disease) is a rare autosomal recessive disorder associated with deposition of hyalinised material in the skin, mucous membrane, and brain. Corectopia has not been described in this disorder. A case is presented of lipoid proteinosis with bilateral corectopia.

摘要

类脂蛋白沉积症（乌尔巴赫-维特病）是一种罕见的常染色体隐性疾病，与透明样物质在皮肤、黏膜和大脑中的沉积有关。这种疾病中尚未有瞳孔异位的相关描述。本文报告一例患有双侧瞳孔异位的类脂蛋白沉积症病例。